A type of anaemia Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Iron deficiency anaemia 09/05/26, 14:47 Last updated: Published: 27/06/23, 18:10 A type of anaemia This article is no. 2 of the anaemia series. Next article: anaemia of chronic disease . Previous article: Anaemia . Aetiology Iron deficiency anaemia (IDA) is the most frequent in children due to rapid growth (adolescence) and poor diets (infants), and in peri and post -menopausal women due to rapid growth (pregnancy) and underlying conditions. Anaemia typically presents in around 50% of cases, as headache, lethargy and pallor, depending on the severity. Less common side effects include organomegaly and Pica, which occur in patients with zinc and iron deficiency, and is defined by the eating of things with little to no nutritional value. Pathophysiology Iron is primarily sourced through diet, as haem (Fe2+) and non-haem iron (Fe3+). Fe2+ is sourced through meat, fish, and other animal-based products, Fe2+ can be absorbed directly through the enterocyte via the haem carrier protein1 (HCP1). Fe3+ is less easily absorbed and is mostly found in plant-based products. Fe3+ must be reduced and transported through the duodenum by the enzyme duodenal cytochrome B (DcytB) and the divalent metal transporter 1 (DMT1), respectively. Diagnosis As with any diagnosis, the first test to run would be a full blood count and this will occur with all the anaemias. In suspected cases of anaemia, the haemoglobin (Hb) levels would be lower than 130 in males and 120 in females. The mean cell volume (MCV) is a starting point for pinpointing the type of anaemia. For microcytic anaemias, you would expect to see an MCV < 80. Iron studies are best for diagnosing anaemias. For IDA, you would expect most of the results to be low. A patient with IDA has little to no available iron so the body would halt the mechanism’s for storing iron. As ferratin is directly related to storage, low ferratin can be a lone diagnostic of IDA. Total iron-binding capacity (TIBC) would be expected to be raised, as transferrin transports iron throughout the body. The higher TIBC is, the more iron it would be capable of binding to. Elliptocytes (tear drop) are elongated RBC, often described as pencil-like in structure, and are regularly seen in IDA and other anaemias. Typically, one would see hypochromic RBC as they contain less Hb than normal cells; the Hb is what gives red cells their pigment. It’s not uncommon to see other changes in RBC such as target cells, given their name due to the bulls-eye appearance. Target cells are frequently seen in cases with blood loss. Summary IDA is the most frequent anaemia affecting patients of all age ranges, and usually presents with lethargy and headaches. Dietary iron from animal derivatives are the most efficient source of iron uptake. Diagnosis of IDA is through iron studies, red cell morphological investigations alongside clinical presentation, to rule out other causes. Written by Lauren Kelly Project Gallery

A basic outline Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link An introduction to stem cells and their transformative potential 09/07/25, 11:48 Last updated: Published: 06/09/24, 12:28 A basic outline This is Article 1 in a three-part series on stem cells. Next article: The role of mesenchymal stem cells . Welcome to the first article in a series of three articles about stem cells, where I will introduce stem cells and how they differentiate. Stem cells are a remarkable type of cells that can become other types. They are divided into two main categories: adult stem cells (ASCs) and pluripotent stem cells. ASCs can differentiate into cells of specific tissues and organs. Pluripotent stem cells can differentiate into all cells in the human body and can further be split into embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs). ASCs are also known as non-embryonic or somatic stem cells, referring to cells that come from non-reproductive cells, not egg or sperm cells. Some examples of ASCs include mesenchymal cells, epithelial cells and skin cells. These cells are mainly used to replace and repair dead or damaged tissues and organs damaged by disease, injury or ageing. They may stay non-dividing (quiescent) but promptly differentiate in different cell types when needed. ESCs do not come from fertilised eggs but rather from the inner cell mass of a blastocyst. A blastocyst is a group of dividing cells originating from a fertilised egg 3-5 days after fertilisation. After scientists have received informed consent, the cells are fertilised in vitro, outside a living organism, such as in a laboratory. iPSCs are created in a laboratory by mixing ASCs and ESCs. Scientists generate them by transcription-factor transduction, a type of nuclear reprogramming. Nuclear reprogramming and stem cell differentiation Nuclear reprogramming is when the nucleus of a cell is introduced into the cytoplasm of a new cell. The transfer results in changes in gene expression. In 2010, scientists Shinya Yamanaka and Helen M. Blau published a review of three alternative approaches in nuclear reprogramming to restore a cell's pluripotent state: nuclear transfer, cell fusion and transcription-factor transduction. Nuclear transfer involves moving the nucleus from a specialised cell into an egg cell with no nucleus. This can be done with oocytes or fertilised eggs during specific cell cycle phases. The reprogramming factors in the egg cell activate genes in the transferred nucleus, causing the nucleus to express genes typical of embryonic stem cells. Through this process, a specialised cell can adopt the characteristics of embryonic stem cells and potentially develop into any cell type in the body. Cell fusion is when two different cells merge to form a single hybrid cell. During cell fusion, the membranes of the two cells join, allowing their contents to mix. This merging of cells can lead to combining genetic material and cellular components from both cells. Transcription-factor transduction involves introducing specific genes called transcription factors ( Oct4 , Sox2 , Klf4 and c- Myc ) into adult cells to reprogram them into iPSCs. Conclusion Stem cells have a huge potential in medicine and research due to the different types having different functions. While the process of nuclear reprogramming does pose some challenges, such as the difficulty in ensuring that reprogrammed cells are safe and don't develop into tumours, ultimately, a better understanding of the mechanisms behind this process will allow scientists to leverage the potential of these cells, allowing them to be used in regenerative medicine. Watch out for the next article in the series, where I will discuss the role of stem cells in regenerative medicine! Written by Naoshin Haque Related articles: Vertebral stem cells and tumour metastasis / iPSCs and organoids Project Gallery

Lesser-known illnesses Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Rare zoonotic diseases 29/03/26, 17:06 Last updated: Published: 08/07/23, 14:34 Lesser-known illnesses This is article no. 1 in a series on rare diseases. Next article: Breast cancer in males . Introduction From COVID-19 possibly coming from livestock in Wuhan market to HIV resulting from numerous transmissions between African primates, it seems that zoonotic diseases are difficult to control. They occur when pathogenic microorganisms are spread from animals to humans or vice-versa. Their impact on human civilization is alarming because they are responsible for 2.5 billion cases of illness and 2.7 million deaths in humans annually around the world. Although there is a lot of information regarding more familiar zoonotic diseases such as rabies and malaria, this article focuses on those that may be less discussed as they could become more problematic in the future. Crimean-Congo haemorrhagic fever (virus) To begin, Crimean-Congo haemorrhagic fever (CCHF) is a viral disease, which spreads when humans are bitten by ticks carrying the virus along with farmers killing infected livestock. It is endemic in more than 30 European, African and Asian countries with the exact factors contributing to the increased cases of CCHF being a mystery. Diagnosing the disease involves detecting the virus through Enzyme-linked immunosorbent assay (ELISA), real time polymerase chain reaction (RT-PCR) along with detecting IgM and IgG antibodies using ELISA. As for the treatment options for CCHF, they are finite as there are no available vaccines and the only antiviral drug used against the virus is ribavirin, which prevents replication of various DNA and RNA viruses in-vitro. Given all this information, it is evident that extensive research is necessary to better understand the disease holistically and design drugs that can stop more fatalities associated with CCHF. Trichinellosis (parasite) The next zoonotic disease to address is trichinellosis or trichinosis , which is caused by Trichinella spiralis and so it is a parasitic infection. It can spread by eating poorly prepared meat such as pork, and mammals like horses and wild carnivores are typically the reservoirs of infection. Its epidemiology in humans seems to be limited because it has 10,000 cases and 0.2% death rate annually. Moreover, an important factor that can contribute to the spread of trichinellosis is culture because certain communities have dishes containing raw meat. For example, a review referenced more than 600 outbreaks, 38,797 infections and 336 deaths in humans between 1964 and 2011 in China. As for diagnosing trichinellosis, it is challenging because it has general signs. With this in mind, the common method to spot the disease is detecting IgG antigens that work against Trichinella spiralis . On the other hand, its major drawback is getting a false negative in early trichinellosis infection. Like CCHF, trichinellosis is not as prevalent compared to other zoonotic diseases but it can have devastating impacts on specific countries, so increasing the supply of antiparasitic drugs like albendazole and/or mebendazole would be beneficial to stop the spread of Trichinella spiralis. Brucellosis (bacteria) The next zoonotic disease which is caused by a bacterial pathogen is brucellosis and is common worldwide, though certain places have higher prevalence of the disease compared to others. The pathogen can be transmitted through various ways such as direct contact with infected animal tissue on broken skin and consuming contaminated meat or dairy. Interestingly, it has been linked to childhood pulmonary infections as 18 out of 98 brucellosis patients have experienced such symptoms, but this is rare (based solely on a 2020 study). The graph above indicates that when brucellosis occurs in animals, it has a high likelihood of being passed onto humans. For example, the years 2004-2007 could be when brucellosis cases were most frequent. This could have been alleviated through specific antibiotics used to treat brucellosis that include rifampin, doxycycline and streptomycin. Similar to trichinellosis, brucellosis diagnosis can be difficult because the symptoms can vary and are not exclusive to one disease, suggesting that different laboratory techniques are needed to find brucellosis in patients. Conclusion It looks like there is a recurring pattern of the zoonotic diseases outlined in this article occurring in developing countries as opposed to developed countries. As such, there have to be more effective interventions to prevent their ramifications on populations living in these countries. For this to occur, there has to be sufficient information, awareness, and education of these rarer zoonotic diseases to begin with. Furthermore, the current treatments for CCHF, trichinellosis and brucellosis may be unsuccessful due to the threat of antimicrobial resistance, hence finding alternative treatments for the aforementioned zoonotic diseases is vital in the future. Written by Sam Jarada Related articles: Rabies / Canines and cancer / Vaccine for malaria Project Gallery

A restored wildlife reserve in Mozambique Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link How Gorongosa National Park went from conflict to community Last updated: 06/11/25, 11:53 Published: 27/03/25, 08:00 A restored wildlife reserve in Mozambique This is article no. 5 in a series on animal conservation. Next article: Emperor penguins, the kings of the ice . Previous article: Pangolins: from poached to protected . Gorongosa National Park was the centre of a dark time in Mozambique’s history, which led to most mammals being hunted and entire species going locally extinct. Over the last 20 years, a public-private collaboration has restored many of these species and made Gorongosa National Park a healthy ecosystem again. In this article, I explore what nearly wiped out Gorongosa’s mammals and how they are doing today. About Gorongosa National Park Gorongosa National Park is a wildlife reserve in Mozambique containing grasslands, savannahs, woodlands, and wetlands. It lies at the East African Rift's southern end, making for a complex geological landscape centred around Lake Urema ( Figure 1 ). Lake Urema and the rivers draining into it support a high diversity of herbivorous mammals like elephants, zebras, and antelopes. Civil war and subsequent recovery Gorongosa National Park has illustrated the connections between society and ecology for decades. Civil war raged in Mozambique between 1977 and 1992. During this war, both sides hunted without restrictions in Gorongosa for meat and for valuable animal parts like ivory, which were exported to pay for ammunition. This decreased the population sizes of all animal species in the national park by at least 90%. Twelve years after the war ended, an American non-profit called the Gregory Carr Foundation partnered with the government of Mozambique to conserve and restore Gorongosa. The initiative, now called the Gorongosa Project, aims to bring back mammal species which went locally extinct in the war. In addition to providing healthcare, jobs, and education to 200,000 people living near the national park, the Gorongosa Project invests in tourism and ecological research. Ecologists are interested in how different animal species would rebound from the war and how a diverse ecosystem could be created nearly from scratch. By fostering healthy connections between local communities, scientists, and wildlife after the Mozambican Civil War, the Gorongosa Project has become something special. How different animal species recovered after the Mozambican Civil War Since mammalian herbivores were the cornerstone of pre-war Gorongosa National Park, their recovery has been prioritised. The populations of most herbivores have increased since the Civil War but at varying rates. Waterbucks, a species of antelope, have dominated Gorongosa in the years following the war ( Figure 2 ). This could be because more waterbuck survived the war in the first place and/or because they naturally reproduced faster than other mammals. Stalmans et al. found that waterbucks were found to be growing as fast as they biologically could, as though they had infinite resources and no diseases or predators. Meanwhile, the populations of larger herbivores like hippos, buffaloes, and elephants, which used to dominate Gorongosa, are recovering much slower than waterbucks ( Figure 2 ). With this change in the herbivore community came changes in vegetation. According to Daskin et al., the amount of land covered by trees in Gorongosa increased by 34% between 1977 and 2012 ( Figure 3 ). This was because there were fewer elephants or other ‘browsing’ herbivores to clear out woody vegetation. Thus, the Mozambican Civil War altered the community structure of herbivorous mammals and plants in Gorongosa National Park. After herbivores showed signs of recovery, scientists turned to restoring carnivorous mammals. Lions were the only carnivores not to go locally extinct during the war, so they recovered fastest. Between 2012 and 2016, Bouley et al. counted 104 lions in Gorongosa – about half the pre-war count. Following the success of lions, wild dogs were introduced from two different South African populations in 2018 and 2019. Over the following three breeding seasons, 82 pups were born, and dogs originally from different populations naturally formed their own packs. Wild dogs and lions prefer different prey and hunt in different habitats within Gorongosa, allowing both carnivores to coexist. This successful restoration of mammalian carnivores completed Gorongosa National Park’s post-war ecosystem. Conclusion After most mammals in Gorongosa National Park were hunted during a civil war, the Gorongosa Project restored a functioning ecosystem by diligently monitoring wildlife and working alongside local people. The park has brought attention to the often neglected non-human impacts of war. Conservationists are optimistic that if Gorongosa National Park’s ecosystem can recover from almost nothing, it is not too late to save other damaged ecosystems. Although Gorongosa’s ecosystem today is dominated by waterbucks, time will tell whether populations of carnivores and larger herbivores will return to their former glory. Written by Simran Patel Related articles: Galapagos tortoises / Vicuna conservation / Wildlife corridors REFERENCES Stalmans, M.E. et al. (2019) ‘War-induced collapse and asymmetric recovery of large-mammal populations in Gorongosa National Park, Mozambique’, PLOS ONE , 14(3), p. e0212864. Available at: https://doi.org/10.1371/journal.pone.0212864 . Daskin, J.H., Stalmans, M. and Pringle, R.M. (2016) ‘Ecological legacies of civil war: 35-year increase in savanna tree cover following wholesale large-mammal declines’, Journal of Ecology , 104(1), pp. 79–89. Available at: https://doi.org/10.1111/1365-2745.12483 . Bouley, P. et al. (2018) ‘Post-war recovery of the African lion in response to large-scale ecosystem restoration’, Biological Conservation , 227, pp. 233–242. Available at: https://doi.org/10.1016/j.biocon.2018.08.024 . Bouley, P. et al. (2021) ‘The successful reintroduction of African wild dogs (Lycaon pictus) to Gorongosa National Park, Mozambique’, PLOS ONE , 16(4), p. e0249860. Available at: https://doi.org/10.1371/journal.pone.0249860 . Gorongosa National Park (2020) Our Mission , Gorongosa National Park . Available at: https://gorongosa.org/our-mission-2/ (Accessed: 8 December 2024). Poole, J. et al. (2023) ‘A culture of aggression: the Gorongosa elephants’ enduring legacy of war’, Pachyderm , 64, pp. 37–62. Available at: https://doi.org/10.69649/pachyderm.v64i.518 . Project Gallery

Aggression has the confluence of individual predisposition and maintenance via social context Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Unmasking aggression: a result of personal or social triggers? 14/07/25, 16:10 Last updated: Published: 01/01/25, 14:02 Aggression has the confluence of individual predisposition and maintenance via social context Introduction Anderson & Bushman (2002) define aggression as behaviour aimed at causing harm to another individual. Aggression can be measured by observing a signal of intention or aggression rating by self or others. The social theories of aggression include Dollard's frustration-aggression theory and Bandura's Social Learning Theory, while the individual factors theories account for personality traits and the influence of alcohol. However, there is no definite answer to whether social or individual factors are most important in explaining human behaviour. The interaction between social and individual factors will be explored to gain a deeper understanding of aggression. Social theories The frustration-aggression hypothesis proposed by Dollard et al. (1939) defines frustration as the emotion that follows when the occurrence of an instigated goal-response is interfered with, in turn leading to anger and aggression. According to this hypothesis, a person’s aggressive tendencies will be more intense the closer the individual is to achieving a goal before an obstacle appears. Many support this hypothesis, including Dill and Anderson (1995), who found that levels of aggression resulting from unjustified frustration were higher than justified frustration because they were caused by situational constraints rather than dispositional qualities. However, Berkowitz (1989) criticises Dollard et al.'s hypothesis, saying that frustration can only produce aggressive behaviour if it causes adverse effects. Due to the wide variety of negative and positive effects of frustration, it is important to revisit and clarify the frustration-aggression hypothesis. Additionally, aggression is often explained by the Social Learning Theory (SLT), proposed by Bandura et al. (1963), which states that aggressive behaviour is a learned behaviour reinforced by imitation and rewards or punishment. Bandura conducted the renowned Bobo Doll Study in 1961, in which children mimicked adult behaviour and attacked the doll after watching the researchers physically and verbally abuse a clown-faced inflatable toy in front of them, making this study extremely influential in understanding the role that families and household dynamics play in human behaviour. Based on this theory, exposure to TV violence can teach aggressive conduct and provide a model of behaviour to base actions upon. In SLT, rather than frustration generating an aggressive drive that can only be reduced by injurious behaviour, aversive stimulation creates general emotional arousal that can result in aggressive behaviour. Therefore, social theories encompass a broad range of disinhibitory factors and provide a broad theory explaining both impulsive and principled aggressive conduct. Individual factors theories Individual differences and variables, like personality traits, have also contributed to the study of aggressive behaviour. Hyatt et al. (2019) stated that certain personality traits such as narcissism and sadism have been meta-analytically linked to aggression shown in a lab setting. The lab paradigm captures aggression as it manifests whilst controlling for confounding variables, such as different types of aggression. However, the lab paradigm lacks construct validity because researchers don’t interpret the subjects’ intentions and motives when operationalising aggression. Further evaluation comes from Bettencourt et al. (2006), who meta-analysed personality dimensions and stated that provocation can cause aggression. They note that individuals with Type A personalities often exhibit impulsivity and emotional reactivity, which are positively associated with aggression. Thus, situational circumstances such as provocation and aggressive cues interact with these personality factors, together shaping the likelihood and intensity of aggressive behaviour. Additionally, the interplay between personality and alcohol can explain aggression. Alcohol reduces inhibitions that regulate 'normal' behaviour and increases aggression. Miller et al. (2009) concluded that alcohol may facilitate aggression in high-trait individuals specifically, those who score high on traits associated with aggression, such as impulsivity, hostility, or a predisposition toward anger—by impairing the drinker’s inhibition. Moreover, further research indicates a strong relationship between alcohol consumption and antisocial personality. Therefore, any discussion of personal factors and personality in aggression would be incomplete without considering the influence of alcohol. The interplay between social and individual trait theories Allen et al. (2018) created a model that encompasses both the social and the individual trait theories. The General Aggression Model (GAM) considers social, biological, and individual factors in aggression. This model consists of three stages: input, appraisal, and action. The input stage determines the likelihood of personal and situational factors causing aggression. For instance, individual differences, such as personality, social rejection, and provocation, are identified as risk factors for aggression. During the appraisal stage, the individual decides how to respond. Their response can be aggressive or non-aggressive, depending on the resources, time, and event. The action then influences the social encounter, which can alter personal and situational factors, leading to those factors restarting the cycle. Hence, this model proposes that individuals learn situations that lead to aggressive outcomes. To reduce aggression and offer treatment, the GAM has been applied to intergroup violence and therefore can be applied to a wide range of situations in real life. Conclusion In conclusion, aggression has the confluence of individual predisposition and maintenance via social context. For instance, as discussed previously, socialisation experiences may contribute to aggressive behaviour in individuals with certain personality traits. Thus, it is difficult to distinguish social and individual factors when explaining aggression, as most human behaviour is a multifaceted phenomenon with multiple determinants. Therefore, future research should be more holistic in the explanations of aggression, encompassing both social and individual factors. Written by Pranavi Rastogi Related articles: Emotional chemistry / Psychology of embarrassment / Brain of a bully REFERENCES Allen, J. J., Anderson, C. A., & Bushman, B. J. (2018). The general aggression model. Current Opinion in Psychology,19 , 75-80. doi:10.1016/j.copsyc.2017.03.034 Anderson, C. A., & Bushman, B. J. (2002). Human aggression. Annual Review of Psychology, 53 (1), 27-51. doi:10.1146/annurev.psych.53.100901.135231 Bandura, A., Ross, D., & Ross, S. A. (1963). Imitation of film-mediated aggressive models. Journal of Abnormal and Social Psychology, 66, 3-11 Berkowitz, L. (1989). Frustration-aggression hypothesis: Examination and reformulation. Psychological Bulletin, 106 (1), 59-73. doi:10.1037/0033-2909.106.1.59 Bettencourt, B.A. et al. (2006) ‘Personality and aggressive behavior under provoking and neutral conditions: A meta-analytic review.’, Psychological Bulletin , 132(5), pp. 751–777. doi:10.1037/0033-2909.132.5.751. Dill, J. C., & Anderson, C. A. (1995). Effects of frustration justification on hostile aggression. Aggressive Behavior, 21 (5), 359-369. doi:10.1002/1098-2337(1995)21:5<359::aid-ab2480210505> 3.0.co ;2-6 Dollard, J., Miller, N. E., Doob, L. W., Mowrer, O. H., & Sears, R. R. (1939). Frustration and aggression. doi:10.1037/10022-000 Hyatt, C. S., Chester, D. S., Zeichner, A., & Miller, J. D. (2019). Analytic flexibility in laboratory aggression paradigms: Relations with personality traits vary (slightly) by operationalization of Aggression. Aggressive Behavior, 45 (4), 377-388. doi:10.1002/ab.21830 Miller, C.A., Parrott, D.J. and Giancola, P.R. (2009) ‘Agreeableness and -related aggression: The mediating effect of trait aggressivity.’, Experimental and Clinical Psychopharmacology , 17(6), pp. 445–455. doi:10.1037/a0017727. Project Gallery

Mutations in collagen and related proteins are the primary cause of EDS Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link From genes to joints: how Ehlers-Danlos Syndrome is shaped by genetics 12/09/25, 12:12 Last updated: Published: 08/11/24, 11:40 Mutations in collagen and related proteins are the primary cause of EDS This is article no. 10 in a series on rare diseases. Next article: CEDS- a break in cell death . Previous article: Breaking down Tay-Sachs . Ehlers-Danlos Syndrome (EDS) is a group of 13 inherited disorders that affect connective tissues, particularly collagen. Collagen is a crucial protein in the body that provides structure and strength to skin, joints, and blood vessels. Mutations in collagen or collagen-modifying proteins are the primary cause of the types of EDS. EDS manifests through a range of symptoms that vary significantly depending on the specific type of EDS. However, there are common symptoms that many individuals with EDS experience, particularly related to joint and skin issues. For instance, joints can move beyond the normal range, leading to frequent dislocations and subluxations, also called joint hypermobility. Additionally, the skin can be stretched more than usual, which creates a soft and velvety appearance known as skin hyperextensibility. As mentioned in Figure 1 , skin bruising, scarring and tearing are common symptoms, leading to individuals often experiencing chronic pain. Life expectancy for individuals with EDS varies depending on the type of disorder an individual has. This is due to how specific forms can have structural changes in organs and tissues, which can lead to serious life-threatening complications. For example, vascular EDS (vEDS) is associated with a significantly reduced life expectancy due to the risk of spontaneous rupture of major blood vessels, intestines, and other hollow organs. Most other forms of EDS, such as classical EDS (cEDS), hypermobile EDS (hEDS), and kyphoscoliotic EDS (kEDS), generally do not significantly affect life expectancy. However, the health complications that patients have can substantially impact their quality of life. Genetic basis As stated, the various types of EDS encompass many genetic defects, for example, cEDS is linked to mutations in the COL5A1 or COL5A2 genes, which encode the α1 and α2 chains of type V collagen. Following an autosomal dominant inheritance pattern, 50% of cEDS diagnoses inherit the condition from an affected parent, while the other half from a new (de novo) pathogenic variant. Diagnosing EDS encompasses a variety of methods. Firstly, differential diagnosis may be used to distinguish between subtypes like cEDS and hEDS by evaluating clinical features such as the presence of joint hypermobility, skin characteristics, and scarring patterns. Clinicians use these specific symptoms along with family history to differentiate between the subtypes since some, like hEDS, lack identified genetic markers, making this clinical assessment essential for accurate diagnosis and management. This process helps exclude other conditions and accurately identify the EDS subtype. Also, suggestive clinical features identifying pathogenic or likely pathogenic variants in the COL5A1 or COL5A2 genes can be done through molecular genetic testing. This testing can be approached in two ways: targeted multigene panels, which focus on specific genes like COL5A1 and COL5A2 . Alternatively, comprehensive genomic testing, such as exome or genome sequencing, does not require preselecting specific genes and is useful when the clinical presentation overlaps with other inherited disorders. Mutations in COL5A1 and COL5A2 can include missense, nonsense, splice site variants, or small insertions and deletions, all of which impair the function of type V collagen. Missense mutations result in the substitution of one amino acid for another, disrupting the collagen triple helix structure and affecting its stability and function. On the other hand, nonsense mutations lead to a premature stop codon, producing a truncated and usually non-functional protein. Splice site mutations interfere with the normal splicing of pre-mRNA, resulting in aberrant proteins. These mutations in COL5A1 and COL5A2 lead to the characteristic features of cEDS, such as highly elastic skin and joint hypermobility. Furthermore, different types of EDS are caused by specific genetic mutations, each affecting collagen in distinct ways and necessitating varied treatment approaches. VEDS is caused by mutations in the COL3A1 gene, which affects type III collagen and leads to fragile blood vessels and a higher risk of organ rupture. kEDS results from mutations in the PLOD1 or FKBP14 genes, impacting collagen cross-linking, and presents with severe scoliosis and muscle hypotonia. Arthrochalasia EDS (aEDS), due to mutations in the COL1A1 or COL1A2 genes that affect type I collagen, features severe joint hypermobility and congenital hip dislocation. Dermatosparaxis EDS (dEDS) is caused by mutations in the ADAMTS2 gene, which is crucial for processing type I collagen, leading to extremely fragile skin and severe bruising. Each type of EDS highlights the critical role of specific genetic mutations in the structural integrity and function of collagen, which consequently influences treatment approaches. Treatment Treatments for EDS primarily focus on managing symptoms and preventing complications due to the underlying genetic defects affecting collagen. Pain relief through nonsteroidal anti-inflammatory drugs (NSAIDs), acetaminophen, and sometimes opioids is common, addressing chronic pain related to joint and muscle issues. Moreover, physical therapy may help strengthen muscles around hypermobile joints, reducing the risk of dislocations and improving stability. Orthopaedic interventions, such as braces and orthotics, are also used to support joint function, and surgery may be considered in severe cases. Cardiovascular care is crucial, especially for vEDS, involving regular monitoring with imaging techniques to detect arterial problems early. Preventive vascular surgery might be necessary to repair aneurysms or other vascular defects. Wound care includes using specialised dressings to handle fragile skin and prevent extensive scarring, relevant to mutations in genes like COL5A1 and COL5A2 in classical EDS. Understanding the specific genetic mutations helps tailor these treatments to address the particular collagen-related defects and associated complications in different EDS types. Moreover, clinical trials for treating EDS have shown both positive and negative results. For example, trials investigating the efficacy of physical therapy in strengthening muscles around hypermobile joints have shown positive outcomes in reducing joint instability and improving function. On the other hand, trials aiming to directly modify the underlying genetic defects in collagen production have faced significant challenges. Gene therapy approaches and other experimental treatments targeting specific mutations, such as those in COL5A1 or COL3A1 genes, have shown limited success and faced hurdles in achieving sufficient therapeutic benefit without adverse effects. This is evident as in mouse models the deletion of COL3A1 resulted in aortic and gastrointestinal rupture meaning that simply restoring one functional copy may not be sufficient to prevent the disease. Moreover, the unknown and partial success in identifying mutations responsible for all EDS cases has further bolstered the struggle for researchers to establish comprehensive treatment strategies. In vEDS, as it is a dominantly inherited disorder, adding a healthy copy of the gene (a common strategy in gene therapy) is ineffective because the defective gene still produces harmful proteins. Research has highlighted, however, that the combination of RNAi-mediated mutant allele-specific gene silencing and transcriptional activation of a normal allele could help as a promising strategy for vascular Ehlers-Danlos Syndrome. In the experiment, researchers used small interfering RNA (siRNA) to selectively reduce the mutant COL3A1 mRNA levels by up to 80%, while simultaneously using lysyl oxidase (LOX) to boost the expression of the normal COL3A1 gene. This dual approach successfully increased the levels of functional COL3A1 mRNA in patient cells, suggesting a potential therapeutic strategy for this condition. Conclusion In conclusion, EDS represents a diverse group of inherited connective tissue disorders, primarily caused by mutations in collagen or collagen-modifying proteins. These genetic defects result in a wide range of symptoms, including joint hypermobility, skin hyperextensibility, and vascular complications, which vary significantly across the 13 different types of EDS. Diagnosing and treating EDS is complex and largely dependent on the specific genetic mutations involved. While current treatments mainly focus on managing symptoms and preventing complications, advances in genetic research, such as RNAi-mediated gene silencing and transcriptional activation, show promise for more targeted therapies, especially for severe forms like vascular EDS. However, challenges remain in developing comprehensive and effective treatments, underscoring the need for ongoing research and personalised medical approaches to improve the quality of life for individuals with EDS. Written by Imron Shah Related articles: Hypermobility spectrum disorders / Therapy for skin disease REFERENCES Malfait, F., Wenstrup, R.J. and De Paepe, A. (2010). Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genetics in Medicine, 12(10), pp.597–605. doi: https://doi.org/10.1097/gim.0b013e3181eed412 . Miklovic, T. and Sieg, V.C. (2023). Ehlers Danlos Syndrome. [online] PubMed. Available at: https://www.ncbi.nlm.nih.gov/books/NBK549814/ . Sobey, G. (2014). Ehlers–Danlos syndrome – a commonly misunderstood group of conditions. Clinical Medicine, [online] 14(4), pp.432–436. doi: https://doi.org/10.7861/clinmedicine.14-4-432 . Watanabe, A., Wada, T., Tei, K., Hata, R., Fukushima, Y. and Shimada, T. (2005). 618. A Novel Gene Therapy Strategy for Vascular Ehlers-Danlos Syndrome by the Combination with RNAi Mediated Inhibition of a Mutant Allele and Transcriptional Activation of a Normal Allele. Molecular Therapy, [online] 11, p.S240. doi: https://doi.org/10.1016/j.ymthe.2005.07.158 . FURTHER READING The Ehlers-Danlos Society - A global organisation dedicated to supporting individuals with EDS and raising awareness about the condition by providing extensive information on the different types of EDS, updates on research, and resources for patients https://www.ehlers-danlos.com/ PubMed - For those interested in academic research, articles and studies on EDS. https://www.ncbi.nlm.nih.gov/pmc/?term=ehlers-danlos+syndrome Cleveland Clinic – A clinic with an extensive health library providing easy to understand and informative information about the syndrome. https://my.clevelandclinic.org/health/diseases/17813-ehlers-danlos-syndrome Project Gallery

Loss aversion: the power of framing in decision-making and why we are susceptible to poor decisions Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Behavioural Economics III 06/11/25, 11:56 Last updated: Published: 15/10/24, 12:18 Loss aversion: the power of framing in decision-making and why we are susceptible to poor decisions This is article no. 3 in a series on behavioural economics. Next article- Libertarian Paternalism . Previous article- The endowment effect . In the realm of decision-making, the way information is presented can dramatically influence the choices people make. This phenomenon, known as framing, plays a pivotal role in how we perceive potential outcomes, especially when it comes to risks and rewards. We shall now explore the groundbreaking work of Tversky and Kahneman, who sought to explain how different framings of identical scenarios could lead to vastly different decisions. By examining their research, we can gain insight into why we are susceptible to making poor decisions and understand the underlying psychological mechanisms that drive our preferences. The power of framing Imagine that the UK is preparing for the outbreak of an unusual disease, which is expected to kill 600 people. Two alternative programs to combat the disease have been proposed. In a paper by Tversky and Kahneman, they examined the importance of how information is conveyed in two different scenarios. In scenario 1: If program A is adopted, 200 people will be saved. If program B is adopted, there is a 1/3 probability that 600 people will be saved and a 2/3 probability that no people will be saved. In scenario 2: If program A is adopted, 400 people will die. If program B is adopted, there is a 1/3 probability that nobody will die and a 2/3 probability that 600 people will die. Notice that both scenarios display the exact same information, but the way in which the information is displayed is different. So surely there should be no difference between the two scenarios? In fact, there is a huge difference. Scenario 2 has been given a loss frame, where the loss frame emphasises the potential negative outcomes. By taking a sidestep, we can examine why this is important. Loss aversion is the phenomenon where ‘losses loom larger gains’. In other words, if we lose something, then the negative impact of this is greater than the positive impact of an equal-sized gain. Image 1 illustrates a loss aversion function. As illustrated in the image, a loss of £100 results in a much larger negative reaction than the positive reaction of a gain of £100. To put this into perspective, imagine it’s your birthday and someone gifts you some money. You would hopefully feel quite grateful and happy, but perhaps this feeling isn’t overwhelming. On the contrary, if you soon discover that you lost your wallet or purse, which contained the same amount of money, the psychological impact is often much more severe. Losses are perceived to be much more significant than gains. Going back to the example involving the two scenarios, we see that in scenario 2, program A emphasises the death of 400 people compared to scenario 2, program B, which has a chance to lose more but also a chance to save everyone. Statistically, you should be indifferent between the two, but because the guaranteed loss of 400 people is so overwhelming, people would much rather gamble and take the chance. This same reason is why gambling is so addictive. When you lose money in a gamble, you feel compelled to not accept the loss and decide to continue betting in an effort to make back what you once had. What Kahneman and Tversky found was that in scenario 1, 72% of people chose program A, and in scenario 2, 78% of people chose program B. Clearly, how we frame a policy makes a huge difference in its popularity. By framing the information by saying “200 people will be saved” rather than “400 people will die” out of the same 600 people, our own perception is considerably different. But on a deeper level, why might this be, and why is knowing this distinction important? In my previous article on the endowment effect, we saw that once you own something, you feel possessive over it, and losing something that you have had to work for, like money, makes you feel as though that hard work has gone to waste. But this explanation struggles to translate into our example of people. In researching for this article, I came across the evolutionary psychology perspective and found it to be both interesting and persuasive. From an evolutionary perspective, loss aversion can be seen as an adaptive trait. For our ancestors, losses such as losing food or shelter could have dire consequences for survival, whereas gains such as finding extra food was certainly beneficial but not as crucial for immediate survival. Therefore, we may be hardwired to avoid any losses, which has translated into modern-day loss aversion. The reason why knowing about this is important comes up in two aspects of life. The first is in healthcare. As demonstrated at the beginning of the article, people’s decisions can be impacted by the way in which healthcare professionals and the government frame policies. By understanding this, it allows you to make your own decision on the risks and determine whether you believe it is right for you. Similarly, policymakers can shape public opinion by highlighting the benefits or costs of action or inaction such that it meets their own political agenda. So recognising loss aversion allows for more informed decision-making. Additionally, when it comes to the world of investing, people tend to keep hold of an investment that is performing badly or perhaps at a loss in the hopes that it will go back up in the future. If this belief is justified through analysis or good judgement, then deciding to hold may be a good decision; however, often loss aversion creates a false sense of hope similar to the example I gave for gambling. If you are a keen investor, it’s important to be aware of your own investment psychology so that it allows you to maintain an objective view of a company throughout the time you decide to remain invested. Evidently, understanding how we think and make decisions can play an important role in improving the choices we make in our personal and professional lives. By recognising the impact of loss aversion and framing, we can become more aware of the unconscious biases that drive us to avoid losses at all costs, even when those decisions may not be in our best interest. Whether it’s in healthcare, investing, or everyday life, cultivating this awareness allows for more rational, informed choices that better align with long-term goals rather than short-term fears. In a world where information is constantly framed to sway public opinion, knowing the psychology behind our decision-making processes is a powerful tool that can help us make wiser, more deliberate decisions. Written by George Chant REFERENCES Tversky A, Kahneman D. The framing of decisions and the psychology of choice. Science. 1981 Jan 30;211(4481):453-8. doi: 10.1126/science.7455683. PMID: 7455683. Image provided by Economicshelp.org , a link to the website: https://www.economicshelp.org/blog/glossary/loss-aversion/ Project Gallery

Differences in brain structure Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Brief neuroanatomy of autism 26/04/26, 15:18 Last updated: Published: 26/12/23, 20:38 Differences in brain structure Autism is a neurodevelopmental condition present in both children and adults worldwide. The core symptoms include difficulties understanding social interaction and communication, and restrictive or repetitive behaviours such as strict routines and stimming. When the term autism was first coined in the 20th century, it was thought of as a disease. However, it is now described as a cognitive difference rather than a disease; that is, the brains of autistic individuals – along with people diagnosed with dyslexia, dyspraxia, or attention deficit hyperactive disorder – are not defective, but simply wired differently. The exact cause or mechanism for autism has not been determined; the symptoms are thought to be brought about by a combination of genetic and environmental factors. Currently, autism disorders are diagnosed solely by observing behaviours, without measuring the brain directly. However, behaviours may be seen as the observable consequence of brain activity. So, what is it about their brains that might make autistic individuals behave differently to neurotypicals? Total brain volume Back before sophisticated imaging techniques were in use, psychiatrics had already observed the head size of autistic infants was often larger than that of other children. Later studies provided more evidence that most children who would go on to be diagnosed had a normal-sized head at birth, but an abnormally large circumference by the time they had turned 2 to 4 years old. Interestingly, increase in head size has been found to be correlated with the onset of main symptoms of autism. However, after childhood, growth appears to slow down, and autistic teenagers and adults present brain sizes comparable to those of neurotypicals. The cortex Research from the UC Davis MIND Institute (May 2024) found that at the age of 3, autistic girls have a thicker cortex than non-autistic girls, with these differences becoming less pronounced by age 12- due to faster cortical thinning in autistic girls. A major study published in Molecular Psychiatry (Oct 2024) found that, for the first time in living adults, autistic brains have approximately 17% lower synaptic density compared to neurotypical individuals. A lower density of these nerve cell connections was directly correlated with more pronounced differences in communication. The amygdala As well transient increase of total brain volume and differences in the cortex, the size and volume of several brain structures in particular seems to differ between individuals with and without autism. Most studies have found that the amygdala, a small area in the centre of the brain that mediates emotions such as fear, appears enlarged in autistic children. The amygdala is a particularly interesting structure to study in autism, as individuals often have difficulty interpreting and regulating emotions and social interactions. Its increased size seems to persist at least until early adolescence. However, studies in adolescents and adults tend to show that the enlargement slows down, and in some cases is even reversed so that the number of amygdala neurons may be lower than normal in autistic adults. Moreover, higher neuron density was found in the amygdala in children, with lower neuron density in other brain areas- as described by a study in Autism Research (Oct 2024). The cerebellum Another brain structure that tends to present abnormalities in autism is the cerebellum. Sitting at the back of the head near the spinal cord, it is known to mediate fine motor control and proprioception. Yet, recent literature suggests it may also play an important role in some higher other cognitive functions, including language and social cognition. Specifically, it may be involved in our ability to imagine hypothetical scenarios and to abstract information from social interactions. In other words, it may help us recognise similarities and patterns in past social interactions that we can apply to understand a current situation. This ability is poor in autism; indeed, some investigations have found the volume of the cerebellum may be smaller in autistic individuals, although research is not conclusive. Nevertheless, most research agrees that the number of Purkinje cells is markedly lower in people with autism. Purkinje cells are a type of neuron found exclusively in the cerebellum, able to integrate large amounts of input information into a coherent signal. They are also the only source of output for the cerebellum; they are responsible for connecting the structure with other parts of the brain such as the cortex and subcortical structures. These connections eventually bring about a specific function, including motor control and cognition. Therefore, a low number of Purkinje cells may cause underconnectivity between the cerebellum and other areas, which might be the reason for functions such as social cognition being impaired in autism. Written by Julia Ruiz Rua Related article: Epilepsy Project Gallery

Role and function in the body Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Vitamins 14/07/25, 16:11 Last updated: Published: 07/10/23, 13:59 Role and function in the body Vitamins are organic compounds which are not snythesised by organisms. They play a vital role in optimal health to allow for normal cell function, growth and development. There are thirteen essential vitamins: ● Vitamin A - important for eyesight and also strengthens immune systems. ● Vitamin C - important for the health of the immune system and helps produce collagen and helps with wound healing. ● Vitamin D - important for bone health and maintaining immune system functionality. ● Vitamin E - is an antioxidant that helps prevent cell damage and has a preventative role in cancer. Makes red blood cells. ● Vitamin K - allows for blood to clot and plays a role in bone health. ● Vitamin B1 (thiamine) - used to keep muscle tissue and nerves healthy. ● Vitamin B2 (riboflavin) - important for body growth and red blood production. ● Vitamin B3 (niacin/ nicotinic acid) - important for digestion and the digestive system health. ● Vitamin B5 (pantothenic acid/ pantothenate)- important for producing red blood cells and maintaining a healthy digestive system. ● Vitamin B6 (pyridoxin) - helps make brain chemicals and for normal brain function. ● Vitamin B7 (biotin) - needed for metabolism. ● Vitamin B9 (folate/ folic acid) - important for brain function and mental health. ● Vitamin B12 (cobolamine) - important for the nervous system and helps in production of DNA and RNA. They are mostly obtained from the foods we eat but some vitamins like K and biotin are produced by microorganisms in the intestine commonly known as ‘gut flora’. Vitamins are needed in very small quantities. They are made up of carbon, oxygen and hydrogen. They can also contain nitrogen, sulfur, phosphorus and other elements. Vitamin deficiencies Deficiencies of vitamins are classified as either primary or secondary. A primary deficiency occurs when an organism does not get enough of the vitamins in its food such as metabolic causes. A secondary deficiency may be due to an underlying disorder e.g due to lifestyle choices like smoking, excess alcohol consumption or medication that interacts with vitamins. There can be times where one experiences deficiencies and thus it is important to acquire the necessary vitamins through foods, supplements or medication. Sources of vitamins There are many good food sources which provide your body with all the vitamins needed to work properly: ● Oily fish such as salmon, herring and mackerel ● Red meat ● Egg yolk ● Milk and yoghurt ● Cheese ● Nuts and seeds ● Plant-based oils such as olive and rapeseed ● Green leafy vegetables such as broccoli and spinach and a lot more…. This article does not provide any medical advice so please do seek advice from your doctor if you have any further queries. Further information can be found here . Written by Khushleen Kaur Related articles: Probiotics / Food at the molecular level / Rising food prices Project Gallery

Natural substances and their treatment potential Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Using Natural Substances to Tackle Infectious Diseases 10/09/26, 14:36 Last updated: Published: 06/06/23, 18:06 Natural substances and their treatment potential Introduction There is increased concern of antimicrobial resistance, especially when referring to bacteria with superbugs such as Methicillin-resistant Staphylococcus aureus (MRSA) and Carbapenem-resistant Enterobacteriaceae (CRE) as they impact lives globally, mainly through fatalities. Given this predicament, It seems that humanity is losing as a result of this pressing issue. However, it is possible for healthcare professionals to utilise more natural products, which are chemicals made by plants, animals and even microorganisms. This includes resources such as wood and cotton aside from food like milk and cacao. In the context of medicinal treatments, an important justification for using more natural products is because although synthetic or partially synthetic drugs are effective for treating countless diseases, an article found that 8% of hospital admissions in the United States and approximately 100,000 fatalities per year were due to people experiencing unfortunate side effects from these drugs. This article explores three specific natural products, where each have similar and unique health properties that can be harnessed to tackle infectious diseases and its subsequent consequences when left sufficiently unaddressed (i.e. antimicrobial resistance). Honey One of the most famous natural products that has been referenced in various areas of research and has been a food and remedial source for thousands of years is honey. It has properties ranging from antibacterial to antioxidant, suggesting that when honey is applied clinically, it has the potential to stop pathogenic bacteria. For example, honey can protect the gastrointestinal system against Helicobacter pylori , which causes stomach ulcers. In disc diffusion assays, the inhibitive properties of honey were shown when honey samples were evaluated holistically as opposed to its individual ingredients. This implies that the macromolecules in honey (carbohydrates, proteins and lipids) work in unison with other biomolecules, illustrating that honey is a distinctive remedy for preventing bacterial growth. For tackling infectious diseases, particularly against wound infections among others, honey’s medicinal properties provide a lot of applications and because it is a natural product, honey would not present any drastic side effects to a patient upon its administration. Garlic Another natural product that can be effective against microorganisms is garlic because similar to honey, it has antimicrobial and antioxidative compounds. A study judged different garlic phenotypes originating from Greece and discovered that they were beneficial against Proteus mirabilis and Escherichia coli aside from inhibiting Candida albicans and C. kruzei . As for fresh garlic juice (FGJ), it increases the zone of inhibition in various pathogens at 10% and more along with it displaying minimum inhibitory concentrations (MICs) in the 4-16% range. Therefore, garlic in solid or liquid form does show potential as a natural antimicrobial agent, especially against pathogenic bacteria and fungi. With this in mind, it too has multiple applications like honey and should be further studied to best isolate the chemical compounds that could be involved in fighting infectious diseases. Turmeric Curcuma longa (also known as turmeric) is one other natural product with unique properties like garlic and honey, making it a suitable candidate against various microbes. One specific pigment that is part of the ginger family and found in turmeric is curcumin, which can tackle diverse microbes through numerous mechanisms illustrated below in Figure 2 . With this said, curcumin has drawbacks: it is highly hydrophobic, has low bioavailability and quickly breaks down. Although when paired with nanotechnology for delivery into the human body, its clinical applications can be advantageous and an additional observation about curcumin is that it can work collaboratively with other plant derived chemicals to stop antibiotic resistant bacteria. One specific bacterial strain that turmeric can attack is Clostridium difficile, a superbug that causes diarrhoea. A study had 27 strains to measure the MICs of turmeric constituents, particularly curcuminoids and curcumin. The results showed reduced C. difficile growth in the concentration range 4-32 μg/mL. Moreover, they had no negative impacts on the gut microbiome and curcumin had more efficacy in stopping C. difficile toxin production compared to fidaxomicin. Thus, turmeric is efficacious as a natural antimicrobial chemical and with further experimentation (same as honey and garlic), it can be harnessed to prevent infectious diseases besides their impact on human lives. Conclusion Considering the above examples of natural products in this article and others not mentioned, it is clear that they can be powerful in the battle against infectious diseases and the problems associated with them, mainly antimicrobial resistance. They are readily available to purchase in markets and shops at low cost, making them convenient. Moreover, populations in Eastern countries like China and India traditionally have used, and are still using these materials for curing pain and illness. In turn, manufacturing medicines from natural products on a larger scale has the prospect of preventing infectious diseases and even alleviating those that patients currently have. Written by Sam Jarada Related articles: Antibacterial properties of tea tree oil / Mechanisms of pathogen evasion Project Gallery